hkr.sePublikasjoner
Endre søk
RefereraExporteraLink to record
Permanent link

Direct link
Referera
Referensformat
  • apa
  • harvard1
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Annet format
Fler format
Språk
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Annet språk
Fler språk
Utmatningsformat
  • html
  • text
  • asciidoc
  • rtf
Origin of Swedish hemophilia A mutations
Högskolan Kristianstad, Sektionen för lärande och miljö, Avdelningen för Naturvetenskap. Högskolan Kristianstad, Forskningsmiljön Biomedicin.ORCID-id: 0000-0002-9355-3901
Högskolan Kristianstad, Sektionen för lärande och miljö, Avdelningen för Naturvetenskap. Högskolan Kristianstad, Forskningsmiljön Biomedicin.
Department of Biology, Lund University. (Forskningsmiljön Biomedicin)
Högskolan Kristianstad, Sektionen för lärande och miljö, Avdelningen för Naturvetenskap. Högskolan Kristianstad, Forskningsmiljön Biomedicin.
Vise andre og tillknytning
2012 (engelsk)Inngår i: Journal of Thrombosis and Haemostasis, ISSN 1538-7933, E-ISSN 1538-7836, Vol. 10, nr 12, 2503-2511 s.Artikkel i tidsskrift (Fagfellevurdert) Published
Abstract [en]

 Background: Hemophilia A (HA) has a high level of variation within the disease class, with more than 1000 mutations being listed in the HAMSTeRS database. At the same time a number of F8 mutations are present in specific populations at high frequencies. Objectives: The simultaneous presence of large numbers of rare mutations and a small number of high-frequency mutations raises questions about the origins of HA mutations. The present study was aimed at describing the origins of HA mutations in the complete Swedish population. The primary issue was to determine what proportion of identical mutations are identical by descent (IBD) and what proportion are attributable to recurrent mutation events. The age of IBD mutations was also determined. Patients/Methods: In Sweden, the care of HA is centralized, and the Swedish HA population consists of ∼ 750 patients from > 300 families (35% severe, 15% moderate, and 50% mild). Identical haplotypes were defined by single-nucleotide polymorphism and microsatellite haplotyping, and the ages of the mutations were estimated with estiage. Results: Among 212 presumably unrelated patients with substitution mutations, 97 (46%) had mutations in common with other patients. Haplotyping of the 97 patients showed that 47 had IBD mutations (22%) with estimated ages of between two and 35 generations. The frequency of mild disease increased with an increasing number of patients sharing the mutations. Conclusions: A majority of the IBD mutations are mild and have age estimates of a few hundred years, but some could date back to the Middle Ages.

sted, utgiver, år, opplag, sider
2012. Vol. 10, nr 12, 2503-2511 s.
Emneord [en]
founder, haplotype, hemophilia A, identical by descent, recurrent mutation
HSV kategori
Identifikatorer
URN: urn:nbn:se:hkr:diva-9964DOI: 10.1111/jth.12010ISI: 000312539600011PubMedID: 23020595OAI: oai:DiVA.org:hkr-9964DiVA: diva2:580588
Tilgjengelig fra: 2012-12-23 Laget: 2012-12-23 Sist oppdatert: 2017-12-06bibliografisk kontrollert

Open Access i DiVA

Fulltekst mangler

Andre lenker

Forlagets fulltekstPubMed

Personposter BETA

Halldén, ChristerNilsson, DanielSäll, TorbjornLind-Halldén, ChristinaLidén, Annika C.

Søk i DiVA

Av forfatter/redaktør
Halldén, ChristerNilsson, DanielSäll, TorbjornLind-Halldén, ChristinaLidén, Annika C.
Av organisasjonen
I samme tidsskrift
Journal of Thrombosis and Haemostasis

Søk utenfor DiVA

GoogleGoogle Scholar

doi
pubmed
urn-nbn

Altmetric

doi
pubmed
urn-nbn
Totalt: 76 treff
RefereraExporteraLink to record
Permanent link

Direct link
Referera
Referensformat
  • apa
  • harvard1
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Annet format
Fler format
Språk
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Annet språk
Fler språk
Utmatningsformat
  • html
  • text
  • asciidoc
  • rtf